Lurie Center for Autism, Lexington, MA, United States of America.
Massachusetts General Hospital, Boston, MA, United States of America.
PLoS One. 2019 May 29;14(5):e0216526. doi: 10.1371/journal.pone.0216526. eCollection 2019.
Research associating the increased prevalence of familial autoimmunity with neuropsychiatric disorders is reliant upon the ascertainment of history of autoimmune diseases from relatives. To characterize the accuracy of self-report, we compared self-reported diagnoses of 18 autoimmune diseases using an online self-report questionnaire to the electronic medical record (EMR) diagnoses in 1,013 adult (age 18-70 years) patients of a primary care clinic. For the 11 diseases meeting our threshold observed prevalence, we estimated sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) for self-reported diagnoses under the assumption that EMR-based diagnoses were accurate. Six diseases out of 11 had either sensitivity or PPV below 50%, with the lowest PPV for dermatological and endocrinological diseases. Common errors included incorrectly self-reporting type 2 diabetes mellitus (DM), when type 1 DM was indicated by the EMR, and reporting rheumatoid arthritis when osteoarthritis was indicated by the EMR. Results suggest that ascertainment of familial autoimmunity through self-report contributes to inconsistencies and inaccuracies in studies of autoimmune disease history and that future studies would benefit from incorporating EMR review and biological measures.
将家族自身免疫性疾病的高发率与神经精神疾病联系起来的研究依赖于从亲属那里确定自身免疫性疾病的病史。为了描述自我报告的准确性,我们将在线自我报告问卷中自我报告的 18 种自身免疫性疾病的诊断与初级保健诊所的 1013 名成年(18-70 岁)患者的电子病历(EMR)诊断进行了比较。对于符合我们观察到的患病率阈值的 11 种疾病,我们根据 EMR 诊断准确的假设,估计了自我报告诊断的敏感性、特异性、阳性预测值(PPV)和阴性预测值(NPV)。在这 11 种疾病中,有 6 种疾病的敏感性或 PPV 低于 50%,皮肤科和内分泌科疾病的 PPV 最低。常见的错误包括错误地报告 2 型糖尿病(DM),而 EMR 提示 1 型 DM,以及报告类风湿关节炎,而 EMR 提示骨关节炎。结果表明,通过自我报告确定家族自身免疫性疾病会导致自身免疫性疾病史研究中的不一致和不准确性,未来的研究将受益于纳入 EMR 审查和生物学措施。